2016-04-02

原著

Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I.
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.
Neuromuscul Disord. 2016 Apr-May;26(4-5):300-308.

2016-04-01

総説・著書

[総説]
森まどか，西野一三：GNEミオパチー(縁取り空胞を伴う遠位型ミオパチー)－患者レジストリーと治験．神経内科．85(6): 639-645, 2016

2016-04-01

原著

長田治、岩崎章、西野一三、埜中征哉、後藤雄一:
高度のミトコンドリアDNAA3243G変異率と臨床経過との関連が示唆されたMELASの一例.
神経内科 83（6）,520-524,12,2016

2016-04-01

原著

Kim Y, Koide R, Isozaki E, Goto Y.
Magnetic resonance umaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation.
Neurol Clin Neurosci 4(1):34-35. 2016.

2016-04-01

原著

Narumi S, Natori T, Miyazawa H, Kato T, Yonezawa H, Nishino I, Nakamura M, Sano A, Terayama Y.
Case of McLeod syndrome with a novel genetic mutation.
Neurology and Clinical Neuroscience. 4(3):115-117. 2016.

2016-04-01

原著

Hatakeyama H, Goto Y.
Heteroplasmic mitochondrial DNA mutations and mitochondrial diseases: Toward iPSC-based disease modeling, drug discovery, and regenerative therapeutic.
Stem Cells. 2016 Apr;34(4):801-8.

2016-03-16

学会発表

[特別講演、シンポジウム]
Nishino I: Inclusion body myositis – Current status. 5th International Congress of Myology, Lyon, France, 3.16, 2016

2016-03-16

学会発表

[特別講演、シンポジウム]
Nishino I: GNE myopathy – mechanism and therapy. 5th International Congress of Myology, Lyon, France, 3.16, 2016

2016-03-15

原著

Liang WC, Chou PC, Hung CC, Su YN, Kan TM, Chen WZ, Hayashi YK, Nishino I, Jong YJ.
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
J Neurol Sci. 2016 Mar 15;362:304-308.

2016-03-12

総説・著書

[著書]
西川敦子，西野一三：Pompe病の臨床．Annual Review 2016 神経 (編集：鈴木則宏，祖父江元，荒木信夫，宇川義一，川原信隆), 中外医学社，東京，pp200-205, 2016